PSACH
MCID: PSD012
MIFTS: 51

Pseudoachondroplasia (PSACH) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Pseudoachondroplasia

Aliases & Descriptions for Pseudoachondroplasia:

Name: Pseudoachondroplasia 54 12 23 50 24 25 56 66 13 14 69
Pseudoachondroplastic Dysplasia 12 50 24 25 56 66
Psach 23 50 24 25 66 52
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome 50 25
Spondyloepiphyseal Dysplasia, Pseudoachondroplastic 12 50
Pseudoachondroplastic Spondyloepiphyseal Dysplasia 50 56
Spondyloepiphyseal Dysplasia Pseudoachondroplastic 66 29

Characteristics:

Orphanet epidemiological data:

56
pseudoachondroplasia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

GeneReviews:

23
pseudoachondroplasia:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance is 100%...

Classifications:



External Ids:

OMIM 54 177170
Disease Ontology 12 DOID:0080047
Orphanet 56 ORPHA750
MESH via Orphanet 43 C535819
UMLS via Orphanet 70 C0410538
ICD10 via Orphanet 34 Q77.8
MedGen 40 C0410538
MeSH 42 D010009

Summaries for Pseudoachondroplasia

NIH Rare Diseases : 50 pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. intelligence, facial features and head size are normal. pseudoachondroplasia is caused by mutations in the comp gene. this condition is inherited in an autosomal dominant pattern. last updated: 1/19/2011

MalaCards based summary : Pseudoachondroplasia, also known as pseudoachondroplastic dysplasia, is related to pseudoachondroplastic dysplasia 2 and multiple epiphyseal dysplasia, and has symptoms including arthralgia, osteoarthritis and genu valgum. An important gene associated with Pseudoachondroplasia is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways/superpathways are Phospholipase-C Pathway and Focal Adhesion. Affiliated tissues include bone, and related phenotypes are Increased gamma-H2AX phosphorylation and limbs/digits/tail

Disease Ontology : 12 An osteochondrodysplasia that has material basis in mutations in the COMP gene which results_in short limb dwarfism.

Genetics Home Reference : 25 Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder.

OMIM : 54 Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature,... (177170) more...

UniProtKB/Swiss-Prot : 66 Pseudoachondroplasia: A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs, brachydactyly, ligamentous laxity, and degenerative joint disease.

Wikipedia : 71 Pseudoachondroplasia is a type of short-limb dwarfism. It is a genetic autosomal dominant disorder. It... more...

GeneReviews: NBK1487

Related Diseases for Pseudoachondroplasia

Diseases related to Pseudoachondroplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
id Related Disease Score Top Affiliating Genes
1 pseudoachondroplastic dysplasia 2 10.8
2 multiple epiphyseal dysplasia 10.4
3 achondrogenesis ib 10.1 COMP SLC26A2
4 acromesomelic dysplasia 10.1 COL9A2 SLC26A2
5 cerebral palsy 10.1 ACAN COMP
6 coronary heart disease 4 10.1 ACAN SLC26A2
7 epiphyseal dysplasia, multiple, with myopia and deafness 10.1 ACAN COMP
8 vulvar sarcoma 10.1 ACAN COMP
9 cerebral beriberi 10.1 COL9A2 COL9A3
10 neuropathy, distal hereditary motor, type iia 10.1 COMP SLC26A2
11 slti salem syndrome 10.0 COMP MATN3 SLC26A2
12 albright's hereditary osteodystrophy 10.0 ACAN COMP
13 combined oxidative phosphorylation deficiency 2 10.0 ACAN SLC26A2
14 skeletal dysplasia 10.0
15 asphyxiating thoracic dystrophy 10.0
16 skeletal dysplasias 10.0
17 vitelliform macular dystrophy 10.0 COL9A2 COMP SLC26A2
18 sp7-related osteogenesis imperfecta 10.0 ACAN COMP SLC26A2
19 treacher collins syndrome 1 10.0 DCN SLC26A2
20 short stature, optic nerve atrophy, and pelger-huet anomaly 10.0 ACAN MATN3
21 dentin dysplasia 10.0 ACAN COL9A3
22 achondroplasia 9.9
23 bone resorption disease 9.9 ACAN COL9A2 COL9A3
24 alternating esotropia 9.9 COL9A1 DCN
25 physical disorder 9.9 ACAN COL9A2 COL9A3
26 onychocytic matricoma 9.9 ACAN DCN
27 bone structure disease 9.9 COL9A2 COMP MATN3 SLC26A2
28 pityriasis rubra pilaris 9.9 COMP DCN SLC26A2
29 mild hemophilia a 9.9 COL9A1 COL9A2 COL9A3
30 maternally-inherited mitochondrial dystonia 9.9 COL9A1 COL9A2 COL9A3
31 gingival fibromatosis 9.9 COMP DCN SLC26A2
32 charcot-marie-tooth disease type 5 9.9 COL9A1 COL9A2 COL9A3
33 stickler syndrome, type v 9.9 COL9A2 COL9A3
34 diastrophic dysplasia 9.9
35 cervicitis 9.9
36 dwarfism 9.9
37 osteonecrosis 9.8 ACAN COL9A1 COMP MATN3
38 asthma 9.7
39 tendinopathy 9.7
40 osteogenesis imperfecta 9.7
41 cerebritis 9.7
42 myopathy 9.7
43 syngnathia cleft palate 9.7 ACAN COL9A1 COL9A2 COL9A3
44 myopia, x-linked 9.6 COL9A1 COL9A2 COL9A3 COMP MATN3
45 osteopetrosis 9.4 ACAN COL9A1 COL9A2 COL9A3 COMP MATN3
46 intermediate uveitis 9.2 ACAN COL9A1 COL9A2 COL9A3 COMP MATN3
47 immunodeficiency 30 8.9 ACAN COL9A1 COL9A2 COL9A3 COMP DCN

Graphical network of the top 20 diseases related to Pseudoachondroplasia:



Diseases related to Pseudoachondroplasia

Symptoms & Phenotypes for Pseudoachondroplasia

Symptoms by clinical synopsis from OMIM:

177170

Clinical features from OMIM:

177170

Human phenotypes related to Pseudoachondroplasia:

56 32 (show top 50) (show all 51)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Frequent (79-30%) HP:0002829
2 osteoarthritis 56 32 Frequent (79-30%) HP:0002758
3 genu valgum 56 32 Occasional (29-5%) HP:0002857
4 abnormality of epiphysis morphology 56 32 Very frequent (99-80%) HP:0005930
5 gait disturbance 56 32 Frequent (79-30%) HP:0001288
6 scoliosis 56 32 Frequent (79-30%) HP:0002650
7 kyphosis 56 32 Occasional (29-5%) HP:0002808
8 hyperlordosis 56 32 Frequent (79-30%) HP:0003307
9 delayed skeletal maturation 56 32 Very frequent (99-80%) HP:0002750
10 abnormality of the metaphyses 56 32 Very frequent (99-80%) HP:0000944
11 platyspondyly 56 32 Frequent (79-30%) HP:0000926
12 micromelia 56 32 Very frequent (99-80%) HP:0002983
13 short palm 56 32 Very frequent (99-80%) HP:0004279
14 joint hyperflexibility 56 32 Frequent (79-30%) HP:0005692
15 short foot 56 32 Frequent (79-30%) HP:0001773
16 abnormality of the hip bone 56 32 Very frequent (99-80%) HP:0003272
17 genu varum 56 32 Occasional (29-5%) HP:0002970
18 disproportionate short-limb short stature 56 32 Very frequent (99-80%) HP:0008873
19 intestinal polyposis 56 32 Frequent (79-30%) HP:0200008
20 hamartomatous polyposis 56 32 Frequent (79-30%) HP:0004390
21 short metacarpal 56 32 Very frequent (99-80%) HP:0010049
22 hypoplasia of the odontoid process 56 32 Occasional (29-5%) HP:0003311
23 irregular carpal bones 56 32 Very frequent (99-80%) HP:0004236
24 waddling gait 32 HP:0002515
25 joint laxity 32 HP:0001388
26 ulnar deviation of the wrist 32 HP:0003049
27 bowing of the long bones 56 Very frequent (99-80%)
28 beaking of vertebral bodies 32 HP:0004568
29 sensory neuropathy 32 HP:0000763
30 carpal bone hypoplasia 32 HP:0001498
31 short long bone 32 HP:0003026
32 genu recurvatum 32 HP:0002816
33 brachydactyly syndrome 32 HP:0001156
34 childhood onset short-limb short stature 32 HP:0011405
35 short distal phalanx of finger 32 HP:0009882
36 lumbar hyperlordosis 32 HP:0002938
37 irregular epiphyses 32 HP:0010582
38 delayed epiphyseal ossification 32 HP:0002663
39 degenerative joint disease 56 Frequent (79-30%)
40 atlantoaxial dislocation 32 HP:0003414
41 limited elbow extension 32 HP:0001377
42 limited hip extension 32 HP:0003093
43 ulnar deviation of the hand 32 HP:0009487
44 flared femoral metaphysis 32 HP:0002834
45 cervical cord compression 32 HP:0002341
46 radial metaphyseal irregularity 32 HP:0004019
47 ulnar metaphyseal irregularity 32 HP:0004042
48 fragmented, irregular epiphyses 32 HP:0005063
49 small epiphyses of the phalanges of the hand 32 HP:0010236
50 spatulate ribs 32 HP:0012307

UMLS symptoms related to Pseudoachondroplasia:


joint laxity, ulnar deviation of the wrist, waddling gait

GenomeRNAi Phenotypes related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.02 COL9A1 COL9A2 COL9A3 COMP DCN

MGI Mouse Phenotypes related to Pseudoachondroplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.35 COL9A1 COL9A2 COMP MATN3 SLC26A2
2 skeleton MP:0005390 9.1 COL9A1 COL9A2 COMP DCN MATN3 SLC26A2

Drugs & Therapeutics for Pseudoachondroplasia

Search Clinical Trials , NIH Clinical Center for Pseudoachondroplasia

Genetic Tests for Pseudoachondroplasia

Genetic tests related to Pseudoachondroplasia:

id Genetic test Affiliating Genes
1 Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome 29
2 Pseudoachondroplasia 24 COMP

Anatomical Context for Pseudoachondroplasia

MalaCards organs/tissues related to Pseudoachondroplasia:

39
Bone

Publications for Pseudoachondroplasia

Articles related to Pseudoachondroplasia:

(show top 50) (show all 108)
id Title Authors Year
1
Novel therapeutic interventions for pseudoachondroplasia. ( 28336490 )
2017
2
Painful locking of the wrist in a patient with pseudoachondroplasia confirmed by COMP mutation. ( 28044000 )
2017
3
Dynamic Lower Extremity Deformity in Children With Pseudoachondroplasia. ( 27299778 )
2016
4
A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia. ( 27330822 )
2016
5
Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia. ( 27432013 )
2016
6
Pseudoachondroplasia and painful sequelae. ( 26177939 )
2015
7
Antioxidant and anti-inflammatory agents mitigate pathology in a mouse model of pseudoachondroplasia. ( 25859006 )
2015
8
Abnormal chondrocyte apoptosis in the cartilage growth plate is influenced by genetic background and deletion of CHOP in a targeted mouse model of pseudoachondroplasia. ( 24558358 )
2014
9
Pseudoachondroplasia/COMP - translating from the bench to the bedside. ( 24892720 )
2014
10
Pseudoachondroplasia: a case report. ( 24364233 )
2013
11
Chondrocyte-Specific Pathology During Skeletal Growth and Therapeutics in a Murine Model of Pseudoachondroplasia. ( 24194321 )
2013
12
[Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child]. ( 24229584 )
2013
13
A novel COMP mutation in a Chinese patient with pseudoachondroplasia. ( 23562786 )
2013
14
Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. ( 21922596 )
2012
15
Pseudoachondroplasia and the seven Ovitz siblings who survived Auschwitz. ( 22426567 )
2012
16
Chop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia. ( 22154935 )
2012
17
A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia. ( 22006726 )
2012
18
Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia. ( 21644213 )
2011
19
Difficult to control asthma in the patient with pseudoachondroplasia. ( 22675014 )
2011
20
A novel COMP mutation in a pseudoachondroplasia family of Chinese origin. ( 21599986 )
2011
21
COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype. ( 21042783 )
2010
22
Ilizarov treatment for extreme bilateral genu recurvatum in a pseudoachondroplasia patient: a case report. ( 20306977 )
2010
23
A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature. ( 20830670 )
2010
24
Genetic analysis and serum level of cartilage oligomeric matrix protein in patients with pseudoachondroplasia. ( 20819661 )
2010
25
A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia. ( 19808781 )
2010
26
Novel human pathological mutations. Gene symbol: COMP. Disease: pseudoachondroplasia. ( 19320037 )
2009
27
An inducible cartilage oligomeric matrix protein mouse model recapitulates human pseudoachondroplasia phenotype. ( 19762713 )
2009
28
Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia. ( 18546327 )
2008
29
Pseudoachondroplasia: A rare cause of rhizomelic dwarfism. ( 19753240 )
2008
30
Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes. ( 17200202 )
2007
31
Upper cervical spine instability in pseudoachondroplasia. ( 17878785 )
2007
32
Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family. ( 17579668 )
2007
33
Deformity correction with external fixator in pseudoachondroplasia. ( 16957646 )
2007
34
Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP. ( 17588960 )
2007
35
Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion. ( 16928687 )
2006
36
Retention of the matricellular protein SPARC in the endoplasmic reticulum of chondrocytes from patients with pseudoachondroplasia. ( 16286662 )
2006
37
Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype. ( 16514635 )
2006
38
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. ( 15756302 )
2005
39
Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group. ( 15880723 )
2005
40
A disorder resembling pseudoachondroplasia but without COMP mutation. ( 15551305 )
2005
41
Novel and recurrent exon 13 mutations of COMP in pseudoachondroplasia. ( 15523619 )
2005
42
Characterization of a pseudoachondroplasia-associated mutation (His587-->Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP). ( 14580238 )
2004
43
Mesomelic dwarfism in pseudoachondroplasia. ( 15552564 )
2004
44
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations. ( 15266613 )
2004
45
Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate. ( 15183431 )
2004
46
Role of TSP-5/COMP in pseudoachondroplasia. ( 15094116 )
2004
47
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. ( 12483304 )
2003
48
Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia. ( 12792737 )
2003
49
Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. ( 12768438 )
2003
50
Apoptosis staining in cultured pseudoachondroplasia chondrocytes. ( 12766479 )
2003

Variations for Pseudoachondroplasia

UniProtKB/Swiss-Prot genetic disease variations for Pseudoachondroplasia:

66 (show all 30)
id Symbol AA change Variation ID SNP ID
1 COMP p.Asp290Asn VAR_007614
2 COMP p.Gly299Arg VAR_007615
3 COMP p.Cys328Arg VAR_007616 rs137852653
4 COMP p.Asp349Val VAR_007618
5 COMP p.Cys387Gly VAR_007625
6 COMP p.Gly440Glu VAR_007628
7 COMP p.Gly440Arg VAR_007629
8 COMP p.Cys468Tyr VAR_007632 rs137852651
9 COMP p.Asp472Tyr VAR_007634 rs137852650
10 COMP p.Asp473Gly VAR_007635 rs28936669
11 COMP p.Asp482Gly VAR_007637
12 COMP p.Asp518Asn VAR_007639
13 COMP p.Thr585Met VAR_007641 rs312262900
14 COMP p.Thr585Arg VAR_007642 rs312262900
15 COMP p.Cys348Arg VAR_017102 rs137852656
16 COMP p.Gly719Asp VAR_017103 rs137852655
17 COMP p.Pro234Ser VAR_066790 rs557483957
18 COMP p.Asp290Gly VAR_066791
19 COMP p.Asp326Tyr VAR_066796
20 COMP p.Asp378Val VAR_066803
21 COMP p.Cys387Arg VAR_066807
22 COMP p.Asp446Asn VAR_066815
23 COMP p.Cys448Ser VAR_066816
24 COMP p.Asp473His VAR_066819
25 COMP p.Asp475Asn VAR_066820
26 COMP p.Asp507Gly VAR_066822
27 COMP p.Asp511Gly VAR_066823
28 COMP p.Asp515Gly VAR_066824
29 COMP p.Thr529Ile VAR_066825 rs312262903
30 COMP p.Gly719Ser VAR_066828 rs312262904

ClinVar genetic disease variations for Pseudoachondroplasia:

6 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1 COMP NM_000095.2(COMP): c.1414G> T (p.Asp472Tyr) single nucleotide variant Pathogenic rs137852650 GRCh37 Chromosome 19, 18896850: 18896850
2 COMP NM_000095.2(COMP): c.1403G> A (p.Cys468Tyr) single nucleotide variant Pathogenic rs137852651 GRCh37 Chromosome 19, 18896861: 18896861
3 COMP COMP, 3-BP DEL, 459TCA, SER459DEL deletion Pathogenic
4 COMP COMP, 3-BP DEL, (GAC)4 deletion Pathogenic
5 COMP NM_000095.2(COMP): c.982T> C (p.Cys328Arg) single nucleotide variant Pathogenic rs137852653 GRCh37 Chromosome 19, 18898453: 18898453
6 COMP NM_000095.2(COMP): c.1405_1407GAC[7] (p.Asp473_Asn474insAspAsp) NT expansion Pathogenic GRCh37 Chromosome 19, 18896845: 18896847
7 COMP NM_000095.2(COMP): c.1417_1419dupGAC (p.Asp473_Asn474insAsp) duplication Pathogenic rs312262898 GRCh37 Chromosome 19, 18896845: 18896847
8 COMP NM_000095.2(COMP): c.2156G> A (p.Gly719Asp) single nucleotide variant Pathogenic rs137852655 GRCh37 Chromosome 19, 18893935: 18893935
9 COMP NM_000095.2(COMP): c.1042T> C (p.Cys348Arg) single nucleotide variant Pathogenic rs137852656 GRCh37 Chromosome 19, 18898393: 18898393
10 COMP COMP, EX9DEL deletion Pathogenic
11 COMP COMP, 3-BP DEL, (GAC)2 deletion Pathogenic
12 COMP NM_000095.2(COMP): c.1417_1419delGAC (p.Asp473del) deletion Pathogenic rs312262897 GRCh37 Chromosome 19, 18896845: 18896847
13 COMP NM_000095.2(COMP): c.1586C> T (p.Thr529Ile) single nucleotide variant Pathogenic rs312262903 GRCh37 Chromosome 19, 18896565: 18896565
14 COMP NM_000095.2: c.1679A> G single nucleotide variant Pathogenic
15 COMP NM_000095.2(COMP): c.1747G> A (p.Glu583Lys) single nucleotide variant Pathogenic rs312262899 GRCh37 Chromosome 19, 18895873: 18895873
16 COMP NM_000095.2(COMP): c.1754C> A (p.Thr585Lys) single nucleotide variant Pathogenic rs312262900 GRCh37 Chromosome 19, 18895866: 18895866
17 COMP NM_000095.2(COMP): c.1754C> G (p.Thr585Arg) single nucleotide variant Pathogenic rs312262900 GRCh37 Chromosome 19, 18895866: 18895866
18 COMP NM_000095.2(COMP): c.1754C> T (p.Thr585Met) single nucleotide variant Pathogenic rs312262900 GRCh37 Chromosome 19, 18895866: 18895866
19 COMP NM_000095.2(COMP): c.1760A> G (p.His587Arg) single nucleotide variant Pathogenic/Likely pathogenic rs312262901 GRCh37 Chromosome 19, 18895860: 18895860
20 COMP NM_000095.2(COMP): c.2155G> A (p.Gly719Ser) single nucleotide variant Pathogenic rs312262904 GRCh37 Chromosome 19, 18893936: 18893936

Expression for Pseudoachondroplasia

Search GEO for disease gene expression data for Pseudoachondroplasia.

Pathways for Pseudoachondroplasia

GO Terms for Pseudoachondroplasia

Cellular components related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 ACAN COL9A1 COL9A2 COL9A3 COMP DCN
2 endoplasmic reticulum lumen GO:0005788 9.56 COL9A1 COL9A2 COL9A3 MATN3
3 extracellular matrix GO:0031012 9.54 ACAN COMP DCN
4 collagen trimer GO:0005581 9.5 COL9A1 COL9A2 COL9A3
5 lysosomal lumen GO:0043202 9.4 ACAN DCN
6 proteinaceous extracellular matrix GO:0005578 9.17 ACAN COL9A1 COL9A2 COL9A3 COMP DCN
7 collagen type IX trimer GO:0005594 9.13 COL9A1 COL9A2 COL9A3

Biological processes related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 animal organ morphogenesis GO:0009887 9.33 COL9A1 COMP DCN
2 extracellular matrix disassembly GO:0022617 9.26 ACAN DCN
3 skeletal system development GO:0001501 9.26 ACAN COL9A2 COMP MATN3
4 extracellular matrix organization GO:0030198 9.17 ACAN COL9A1 COL9A2 COL9A3 COMP DCN

Molecular functions related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 9.16 COMP DCN
2 extracellular matrix structural constituent GO:0005201 9.13 ACAN COMP MATN3
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.8 COL9A1 COL9A2 COL9A3

Sources for Pseudoachondroplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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